ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) (rs140841480)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194990 SCV000247214 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000470101 SCV000512899 benign not provided 2019-04-18 criteria provided, single submitter clinical testing
Invitae RCV001083329 SCV000559813 benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720802 SCV000851686 likely benign History of neurodevelopmental disorder 2017-05-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768205 SCV000898656 uncertain significance Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 2017-10-23 criteria provided, single submitter clinical testing DYNC1H1 NM_001376.4 exon 30 p.Ala1995= (c.5985C>T): This variant has not been reported in the literature but is present in 103/126648 European alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140841480). This variant is present in ClinVar (Variation ID:210873). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000470101 SCV001149332 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001083329 SCV001267953 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001110505 SCV001267954 likely benign Autosomal dominant cerebellar ataxia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172871 SCV001335944 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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